Annotation Detail
Information
- Associated Genes
- TARDBP
- Associated Variants
-
TARDBP p.Gly287Ser (p.G287S)
(
ENST00000700088.1,
ENST00000621790.4,
ENST00000240185.8,
ENST00000649624.1,
ENST00000629725.2,
ENST00000315091.7,
ENST00000616545.4,
ENST00000639083.1 )
TARDBP p.Gly287Arg (p.G287R) ( ENST00000700088.1, ENST00000621790.4, ENST00000240185.8, ENST00000649624.1, ENST00000629725.2, ENST00000616545.4, ENST00000639083.1, ENST00000315091.7 )
TARDBP p.Gly287Ser (p.G287S) ( ENST00000700088.1, ENST00000240185.8, ENST00000315091.7, ENST00000616545.4, ENST00000621790.4, ENST00000629725.2, ENST00000639083.1, ENST00000649624.1 )
TARDBP p.Gly287Arg (p.G287R) ( ENST00000700088.1, ENST00000240185.8, ENST00000315091.7, ENST00000616545.4, ENST00000621790.4, ENST00000629725.2, ENST00000639083.1, ENST00000649624.1 ) - Associated Disease
- amyotrophic lateral sclerosis
- Source Database
- DisGeNET
- Description
- 1.6% of patients carried multiple known/potential disease variants, including all identified carriers of an established ALS variant (p<0.01); TARDBP:c.859G>A(p.[G287S]) (n=2/2 sALS).
- Pubmed
- 23881933
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.379801509465824
- Year of publication
- 2014
Drugs